The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important... See more...

Aliases for RAD50 Gene

Aliases for RAD50 Gene

  • RAD50 Double Strand Break Repair Protein 2 3 5
  • RAD50 Homolog, Double Strand Break Repair Protein 2 3
  • DNA Repair Protein RAD50 3 4
  • RAD50 (S. Cerevisiae) Homolog 2
  • RAD50 Homolog (S. Cerevisiae) 2
  • EC 3.6.3.27 52
  • EC 3.6.1.15 52
  • EC 3.6.-.- 4
  • EC 3.6.3 52
  • RAD502 3
  • HRad50 3
  • HRAD50 4
  • NBSLD 3

External Ids for RAD50 Gene

Previous GeneCards Identifiers for RAD50 Gene

  • GC05P131414
  • GC05P132339
  • GC05P131923
  • GC05P131968
  • GC05P131920
  • GC05P127084

Summaries for RAD50 Gene

Entrez Gene Summary for RAD50 Gene

  • The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]

CIViC Summary for RAD50 Gene

GeneCards Summary for RAD50 Gene

RAD50 (RAD50 Double Strand Break Repair Protein) is a Protein Coding gene. Diseases associated with RAD50 include Nijmegen Breakage Syndrome-Like Disorder and Inherited Cancer-Predisposing Syndrome. Among its related pathways are DNA Double-Strand Break Repair and DNA Double Strand Break Response. Gene Ontology (GO) annotations related to this gene include ATPase activity and ATP-dependent DNA helicase activity. An important paralog of this gene is ENSG00000283782.

UniProtKB/Swiss-Prot Summary for RAD50 Gene

  • Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (PubMed:11741547, PubMed:9590181, PubMed:9705271, PubMed:9651580). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888).

Gene Wiki entry for RAD50 Gene

Additional gene information for RAD50 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAD50 Gene

Genomics for RAD50 Gene

GeneHancer (GH) Regulatory Elements for RAD50 Gene

Promoters and enhancers for RAD50 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J132406 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 521.3 -135.7 -135737 26.6 EP300 FOXK2 ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 USF1 POLR2G RAD50 MIR3936HG MIR3936 ENSG00000234290 IRF1 SLC22A5 P4HA2 KIF3A ENSG00000202533 SEPTIN8
GH05J132555 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.8 1752 3.7 ZNF217 CTCF ZSCAN5C NRF1 POLR2G USF1 SP1 NCOR1 GTF2E2 PHF8 IL5 RAD50 lnc-IL5-3 ENSG00000202533 ENSG00000234290 AFF4 FNIP1 IL4 MIR3936HG piR-31199-300
GH05J132579 Promoter 0.3 EPDnew 512 +23.3 23287 0.1 RAD50 IL5 IL13 TH2LCRR piR-31199-300 NONHSAG041528.2 ENSG00000283782
GH05J132603 Promoter 0.3 EPDnew 510.9 +47.3 47285 0.1 RAD50 NONHSAG041528.2 IL5 IL4 ENSG00000230612 piR-31199-300 ENSG00000283782
GH05J132605 Promoter 0.3 EPDnew 510.9 +48.0 47976 0.1 RAD50 NONHSAG041528.2 IL5 IL4 ENSG00000230612 RF00017-4878 ENSG00000283782
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAD50 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAD50

Top Transcription factor binding sites by QIAGEN in the RAD50 gene promoter:
  • C/EBPalpha
  • GATA-1
  • GATA-3
  • GR
  • GR-alpha
  • GR-beta
  • p53
  • POU3F2 (N-Oct-5b)

Genomic Locations for RAD50 Gene

Genomic Locations for RAD50 Gene
chr5:132,556,019-132,646,349
(GRCh38/hg38)
Size:
90,331 bases
Orientation:
Plus strand
chr5:131,891,711-131,980,313
(GRCh37/hg19)
Size:
88,603 bases
Orientation:
Plus strand

Genomic View for RAD50 Gene

Genes around RAD50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAD50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAD50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAD50 Gene

Proteins for RAD50 Gene

  • Protein details for RAD50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92878-RAD50_HUMAN
    Recommended name:
    DNA repair protein RAD50
    Protein Accession:
    Q92878
    Secondary Accessions:
    • B9EGF5
    • O43254
    • Q6GMT7
    • Q6P5X3
    • Q9UP86

    Protein attributes for RAD50 Gene

    Size:
    1312 amino acids
    Molecular mass:
    153892 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Component of the MRN complex composed of two heterodimers RAD50/MRE11 associated with a single NBN (PubMed:8756642, PubMed:9590181, PubMed:9705271, PubMed:10839544, PubMed:26215093). As part of the MRN complex, interacts with MCM8 and MCM9; the interaction recruits the complex to DNA repair sites (PubMed:26215093). Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11 and NBN (PubMed:10783165). Found in a complex with TERF2 (PubMed:10888888). Interacts with RINT1 (PubMed:11096100). Interacts with BRCA1 via its N-terminal domain (PubMed:10426999). Interacts with DCLRE1C/Artemis (PubMed:15456891, PubMed:15723659). Interacts with MRNIP (PubMed:27568553).
    • (Microbial infection) Interacts with herpes simplex virus 1 protein UL12 (PubMed:20943970).
    Miscellaneous:
    • In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral oncoproteins, thereby preventing concatenation of viral genomes in infected cells.
    SequenceCaution:
    • Sequence=AAH62603.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAD50 Gene

    Alternative splice isoforms for RAD50 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAD50 Gene

Selected DME Specific Peptides for RAD50 Gene

Q92878:
  • NGAGKTT
  • GPNGAGKT
  • KDLDIYY
  • ELSKAEKN

Post-translational modifications for RAD50 Gene

  • Ubiquitination at Lys175, Lys187, Lys62, Lys211, Lys295, Lys461, Lys845, Lys1119, Lys1134, and Lys1285
  • Modification sites at PhosphoSitePlus

Domains & Families for RAD50 Gene

Gene Families for RAD50 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RAD50 Gene

Blocks:
  • Rad50 zinc hook motif
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAD50 Gene

GenScript: Design optimal peptide antigens:
  • RAD50 protein (A5D6Y3_HUMAN)
  • RAD50 protein (Q32P42_HUMAN)
  • DNA repair protein RAD50 (RAD50_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92878

UniProtKB/Swiss-Prot:

RAD50_HUMAN :
  • The zinc-hook, which separates the large intramolecular coiled coil regions, contains 2 Cys residues that coordinate one molecule of zinc with the help of the 2 Cys residues of the zinc-hook of another RAD50 molecule, thereby forming a V-shaped homodimer. The two heads of the homodimer, which constitute the ATP-binding domain, interact with the MRE11 homodimer (By similarity).
  • Belongs to the SMC family. RAD50 subfamily.
Domain:
  • The zinc-hook, which separates the large intramolecular coiled coil regions, contains 2 Cys residues that coordinate one molecule of zinc with the help of the 2 Cys residues of the zinc-hook of another RAD50 molecule, thereby forming a V-shaped homodimer. The two heads of the homodimer, which constitute the ATP-binding domain, interact with the MRE11 homodimer (By similarity).
Family:
  • Belongs to the SMC family. RAD50 subfamily.
genes like me logo Genes that share domains with RAD50: view

Function for RAD50 Gene

Molecular function for RAD50 Gene

UniProtKB/Swiss-Prot Function:
Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (PubMed:11741547, PubMed:9590181, PubMed:9705271, PubMed:9651580). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888).
GENATLAS Biochemistry:
RAD50 (S cerevisiae) homolog,involved in DNA recombinational repair and meiosis specific double strand break formation,complexing with MR11 and NBS1

Enzyme Numbers (IUBMB) for RAD50 Gene

Phenotypes From GWAS Catalog for RAD50 Gene

Gene Ontology (GO) - Molecular Function for RAD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 contributes_to single-stranded DNA endodeoxyribonuclease activity IDA 9705271
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IDA 15790808
GO:0003678 contributes_to DNA helicase activity IMP 15790808
GO:0003691 double-stranded telomeric DNA binding IBA 21873635
genes like me logo Genes that share ontologies with RAD50: view
genes like me logo Genes that share phenotypes with RAD50: view

Human Phenotype Ontology for RAD50 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAD50 Gene

MGI Knock Outs for RAD50:

Clone Products

  • Addgene plasmids for RAD50

No data available for Transcription Factor Targets and HOMER Transcription for RAD50 Gene

Localization for RAD50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAD50 Gene

Nucleus. Chromosome, telomere. Chromosome. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents. {ECO:0000269 PubMed:10783165, ECO:0000269 PubMed:15916964, ECO:0000269 PubMed:26215093}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAD50 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0000784 colocalizes_with nuclear chromosome, telomeric region IBA,IDA 24270157
GO:0000790 nuclear chromatin IBA 21873635
GO:0000794 condensed nuclear chromosome IBA 21873635
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with RAD50: view

Pathways & Interactions for RAD50 Gene

genes like me logo Genes that share pathways with RAD50: view

Pathways by source for RAD50 Gene

2 GeneGo (Thomson Reuters) pathways for RAD50 Gene
  • DNA damage_NHEJ mechanisms of DSBs repair
  • DNA damage_Role of Brca1 and Brca2 in DNA repair
6 Qiagen pathways for RAD50 Gene
  • ATM Pathway
  • BRCA1 Pathway
  • Chks in Checkpoint Regulation
  • DNA Repair Mechanisms
  • Fanconi's Anaemia Pathway
1 Cell Signaling Technology pathway for RAD50 Gene
1 GeneTex pathway for RAD50 Gene

SIGNOR curated interactions for RAD50 Gene

Activates:
Other effect:

Gene Ontology (GO) - Biological Process for RAD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000019 regulation of mitotic recombination IDA 8756642
GO:0000722 telomere maintenance via recombination IBA 21873635
GO:0000723 telomere maintenance IEA,TAS 10888888
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0000729 DNA double-strand break processing TAS --
genes like me logo Genes that share ontologies with RAD50: view

Drugs & Compounds for RAD50 Gene

(12) Drugs for RAD50 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3311
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2377
Anti-Infective Agents Pharma 26962
Antimetabolites Pharma 13879
Antiviral Agents Pharma 11875

(3) Additional Compounds for RAD50 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAD50: view

Transcripts for RAD50 Gene

mRNA/cDNA for RAD50 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for RAD50

Alternative Splicing Database (ASD) splice patterns (SP) for RAD50 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2: - -
SP3:

ExUns: 23 ^ 24 ^ 25a · 25b
SP1:
SP2:
SP3:

Relevant External Links for RAD50 Gene

GeneLoc Exon Structure for
RAD50

Expression for RAD50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAD50 Gene

Protein differential expression in normal tissues from HIPED for RAD50 Gene

This gene is overexpressed in Lymph node (16.9) and Peripheral blood mononuclear cells (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAD50 Gene



Protein tissue co-expression partners for RAD50 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAD50

SOURCE GeneReport for Unigene cluster for RAD50 Gene:

Hs.633509

mRNA Expression by UniProt/SwissProt for RAD50 Gene:

Q92878-RAD50_HUMAN
Tissue specificity: Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts.

Evidence on tissue expression from TISSUES for RAD50 Gene

  • Liver(4.4)
  • Adrenal gland(2.2)
  • Nervous system(2.2)
  • Eye(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAD50 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • skull
Thorax:
  • breast
General:
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with RAD50: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RAD50 Gene

Orthologs for RAD50 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAD50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAD50 31 30
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAD50 31 30
  • 93.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAD50 31 30
  • 92.66 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAD50 31
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rad50 17 31 30
  • 87.91 (n)
rat
(Rattus norvegicus)
Mammalia Rad50 30
  • 87.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 86 (a)
OneToMany
chicken
(Gallus gallus)
Aves RAD50 31 30
  • 74.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAD50 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rad50 30
  • 71.49 (n)
zebrafish
(Danio rerio)
Actinopterygii rad50 31 30
  • 67.35 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13354 30
fruit fly
(Drosophila melanogaster)
Insecta rad50 31 32 30
  • 44.33 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003676 30
  • 43.28 (n)
worm
(Caenorhabditis elegans)
Secernentea rad-50 31 32
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD50 33 31
  • 27 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons RAD50 30
  • 46.84 (n)
rice
(Oryza sativa)
Liliopsida Os02g0497500 30
  • 46.5 (n)
Os.7297 30
wheat
(Triticum aestivum)
Liliopsida Ta.1241 30
bread mold
(Neurospora crassa)
Ascomycetes NCU00901 30
  • 43.46 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToOne
Cin.731 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.731 30
Species where no ortholog for RAD50 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RAD50 Gene

ENSEMBL:
Gene Tree for RAD50 (if available)
TreeFam:
Gene Tree for RAD50 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAD50: view image

Paralogs for RAD50 Gene

Paralogs for RAD50 Gene

genes like me logo Genes that share paralogs with RAD50: view

Variants for RAD50 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAD50 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
639074 Uncertain Significance: Hereditary cancer-predisposing syndrome 132,640,757(+) C/T MISSENSE_VARIANT
639335 Uncertain Significance: Hereditary cancer-predisposing syndrome 132,642,318(+) A/G MISSENSE_VARIANT
639622 Pathogenic: Hereditary cancer-predisposing syndrome 132,579,422(+) T/A NONSENSE
639645 Uncertain Significance: Hereditary cancer-predisposing syndrome 132,618,077(+) C/G MISSENSE_VARIANT
639818 Uncertain Significance: Hereditary cancer-predisposing syndrome 132,557,359(+) T/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RAD50 Gene

Structural Variations from Database of Genomic Variants (DGV) for RAD50 Gene

Variant ID Type Subtype PubMed ID
nsv477136 CNV novel sequence insertion 20440878

Variation tolerance for RAD50 Gene

Residual Variation Intolerance Score: 36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAD50 Gene

Human Gene Mutation Database (HGMD)
RAD50
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAD50

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAD50 Gene

Disorders for RAD50 Gene

MalaCards: The human disease database

(13) MalaCards diseases for RAD50 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nijmegen breakage syndrome-like disorder
  • nbsld
inherited cancer-predisposing syndrome
  • hereditary cancer-predisposing syndrome
nijmegen breakage syndrome
  • nbs
hereditary breast ovarian cancer syndrome
  • brca1- and brca2-associated hereditary breast and ovarian cancer
ataxia-telangiectasia
  • at
- elite association - COSMIC cancer census association via MalaCards
Search RAD50 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAD50_HUMAN
  • Nijmegen breakage syndrome-like disorder (NBSLD) [MIM:613078]: A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent. {ECO:0000269 PubMed:19409520}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RAD50

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAD50: view

No data available for Genatlas for RAD50 Gene

Publications for RAD50 Gene

  1. Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95. (PMID: 9705271) Trujillo KM … Sung P (The Journal of biological chemistry 1998) 2 3 4 23 54
  2. Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair. (PMID: 8756642) Dolganov GM … Petrini JH (Molecular and cellular biology 1996) 2 3 4 23 54
  3. Sequence variant discovery in DNA repair genes from radiosensitive and radiotolerant prostate brachytherapy patients. (PMID: 19638463) Pugh TJ … Moore RA (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 23 41 54
  4. Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma. (PMID: 19917125) Schuetz JM … Brooks-Wilson AR (BMC medical genetics 2009) 3 23 41 54
  5. Breast cancer risk is associated with the genes encoding the DNA double-strand break repair Mre11/Rad50/Nbs1 complex. (PMID: 17932350) Hsu HM … Yu JC (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2007) 3 23 41 54

Products for RAD50 Gene

Sources for RAD50 Gene